30,000,000 people living in the United States today have a rare disease and more than half of these are children.* An annual review of pediatric mortality data shows that 23% of infant deaths are due to genetically determined disorders** and 34% of all pediatric admissions are due to an underlying undiagnosed genetic disease accounting for 50% of hospital charges.*** Traditional protocols for diagnosis and treatment are expensive and potentially inconclusive resulting in a diagnostic odyssey that can span years. In addition, there is no current standard for data sharing to allow for knowledge-base growth which will benefit both patients and physicians.
Factors including patient intake and evaluation, assessment for whole genome sequencing, genetic counseling, sample collection and sequencing, data analysis and interpretation, presentation of findings, and treatment planning each represent new processes for a hospital for which protocols must be defined, refined and communicated. Envision Genomics accounts for all of these factors and is the end-to-end solution for incorporating genomic medicine into your hospital. Today.
*Source: NORD (National Organization for Rare Disease) http://rarediseaseday.us
** Hoyert DL, Freedman MA, Strobino DM, Guyer B (2001) Annual summary of vital statistics: 2000. Pediatrics 108:1241– 1255
*** Shawn E. McCandless,1,2 Jeanne W. Brunger,3 and Suzanne B. Cassidy (2004) The Burden of Genetic Disease on Inpatient Care in a Children’s Hospital, Am. J. Hum. Genet. 74:121–127.